基因组编辑技术在遗传性视网膜营养不良基因治疗和细胞治疗中的应用

Application of genomic editing technology in gene therapy and cell therapy of inherited retinal dystrophies

遗传性视网膜营养不良(inherited retinal dystrophies,IRDs)是发展中国家青年人群视力障碍的主要原因,这些疾病呈现不可逆的视觉功能障碍和(或)神经视网膜细胞的丢失,显著影响患者生活质量。由于眼睛的解剖学可及性和免疫赦免特性,眼科研究一直处于创新的基因治疗和细胞治疗的前沿,这两种疗法均具有作为IRDs患者治疗方法的巨大潜力。群集规则间隔短回文重复序列(CRISPR)和CRISP相关蛋白(Cas)等基因组编辑技术为编辑人类基因组提供了准确和有效的方法,成为治疗IRDs的一个极具前景的替代方案。目前,基因组编辑和干细胞技术领域迅猛发展,可以联合为患者提供精确和个性化的治疗,但尚存在缺陷和不足,需进一步研究。

Inherited retinal dystrophies(IRDs)are the main cause of visual impairment in young people in developing countries.The diseases present irreversible visual dysfunction and/or loss of neuroretinal cells,significantly affecting life quality of patients.Due to the anatomical accessibility and immune privilege of the eyes,ophthalmic research has been at the forefront of innovative gene therapy and cell therapy,both of which have great potential as treatments for patients with IRDs.Genome editing technologies such as cluster rules interval short palindrome repeats(CRISPR)/CRISP-associated protein(Cas)have provided accurate and effective methods for editing human genome,representing a promising alternative for the treatment of IRDs.Currently,genome editing and stem cell technology have developed rapidly,which can be combined to provide patients with accurate and personalized treatment,but there are still defects and deficiencies,and further researches are needed.